Mutagenetix > Incidental Mutation

Incidental Mutation 'R8313:Zfp108'

641496

Institutional Source

Beutler Lab

Gene Symbol

Zfp108

Ensembl Gene

ENSMUSG00000030486

Gene Name

zinc finger protein 108

Synonyms

MMRRC Submission

067797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23954219-23961870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23960087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 226 (Y226S)

Ref Sequence

ENSEMBL: ENSMUSP00000145928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072713] [ENSMUST00000205982] [ENSMUST00000206777]

AlphaFold

E9Q8I5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072713
AA Change: Y226S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: Y226S

Domain	Start	End	E-Value	Type
KRAB	8	63	7.94e-18	SMART
low complexity region	140	153	N/A	INTRINSIC
ZnF_C2H2	281	303	1.33e-1	SMART
ZnF_C2H2	309	331	1.69e-3	SMART
ZnF_C2H2	337	359	1.3e-4	SMART
ZnF_C2H2	365	387	2.71e-2	SMART
ZnF_C2H2	393	415	5.14e-3	SMART
ZnF_C2H2	421	443	1.87e-5	SMART
ZnF_C2H2	449	471	3.44e-4	SMART
ZnF_C2H2	477	497	1.08e1	SMART
ZnF_C2H2	503	525	3.89e-3	SMART
ZnF_C2H2	531	553	2.09e-3	SMART
ZnF_C2H2	559	581	4.61e-5	SMART
ZnF_C2H2	587	609	7.9e-4	SMART
ZnF_C2H2	615	637	1.67e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205982
AA Change: Y226S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206777
AA Change: Y226S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Atl2	C	T	17: 80,160,033 (GRCm39)	W518*	probably null	Het
Atp13a2	G	A	4: 140,730,046 (GRCm39)	V646I	probably benign	Het
Bcar1	A	T	8: 112,440,270 (GRCm39)	F575I	probably benign	Het
Bpifa6	T	A	2: 153,831,178 (GRCm39)	L248*	probably null	Het
Ccdc38	T	C	10: 93,399,111 (GRCm39)	L193P	probably damaging	Het
Ch25h	A	C	19: 34,452,138 (GRCm39)	I130S	probably benign	Het
Chaf1a	C	A	17: 56,351,109 (GRCm39)	Q30K	unknown	Het
Dab2ip	T	C	2: 35,617,440 (GRCm39)	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,550,375 (GRCm39)	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,214,456 (GRCm39)	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,860,691 (GRCm39)	Q200R	probably benign	Het
Eif1ad3	A	T	12: 87,843,764 (GRCm39)	D137V	unknown	Het
Epx	C	T	11: 87,763,557 (GRCm39)	R221Q	possibly damaging	Het
Exosc7	T	C	9: 122,956,942 (GRCm39)	L109P	probably damaging	Het
Fbxo22	T	A	9: 55,128,344 (GRCm39)	F222I	probably damaging	Het
Fcgbp	A	G	7: 27,785,769 (GRCm39)	D402G	probably benign	Het
Foxr1	A	G	9: 44,347,351 (GRCm39)	V62A	probably damaging	Het
Gm8267	A	T	14: 44,961,515 (GRCm39)	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,275,071 (GRCm39)	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,568,161 (GRCm39)	F76S	probably damaging	Het
Gpr33	A	G	12: 52,070,907 (GRCm39)	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599 (GRCm39)	T1012I	probably benign	Het
Itga1	T	A	13: 115,103,120 (GRCm39)	T1104S	probably benign	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Lama1	A	G	17: 68,057,515 (GRCm39)	T530A		Het
Lysmd2	A	T	9: 75,533,040 (GRCm39)		probably benign	Het
Mdk	T	C	2: 91,761,178 (GRCm39)	K128E	unknown	Het
Mphosph8	AC	A	14: 56,916,062 (GRCm39)		probably null	Het
Muc16	A	C	9: 18,436,443 (GRCm39)	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423 (GRCm38)	T1100S	probably benign	Het
Mxra7	T	C	11: 116,695,376 (GRCm39)	Y176C	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Myo18b	A	G	5: 113,023,045 (GRCm39)	S116P	unknown	Het
Noc3l	A	G	19: 38,784,254 (GRCm39)	L543P	probably damaging	Het
Or5h24	C	T	16: 58,919,004 (GRCm39)	G117D	unknown	Het
Or7a39	C	T	10: 78,715,170 (GRCm39)	P55S	probably benign	Het
Or8c10	T	A	9: 38,279,346 (GRCm39)	V168E	probably damaging	Het
Pkm	G	T	9: 59,575,902 (GRCm39)	R106L	probably benign	Het
Prkab2	G	T	3: 97,570,911 (GRCm39)	V112F	probably benign	Het
Prkaca	A	T	8: 84,717,151 (GRCm39)	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,666,813 (GRCm39)	V387A	probably benign	Het
Rad17	T	C	13: 100,761,074 (GRCm39)	T485A	probably benign	Het
Rita1	G	T	5: 120,747,716 (GRCm39)	T194K	possibly damaging	Het
Rogdi	C	A	16: 4,831,313 (GRCm39)		probably benign	Het
Senp5	T	C	16: 31,808,117 (GRCm39)	D379G	probably benign	Het
Slc4a4	A	G	5: 89,194,122 (GRCm39)	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,619,520 (GRCm39)		probably benign	Het
Tmem175	T	A	5: 108,791,075 (GRCm39)	S208R	probably benign	Het
Tmem237	A	T	1: 59,147,237 (GRCm39)	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 122,769,936 (GRCm39)	N575K	possibly damaging	Het
Trak2	A	T	1: 58,960,306 (GRCm39)	C232*	probably null	Het
Ubr3	A	G	2: 69,775,478 (GRCm39)	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn1r231	C	T	17: 21,110,289 (GRCm39)	V209I	probably benign	Het
Vmn1r80	T	C	7: 11,926,994 (GRCm39)	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,521,952 (GRCm39)	I48N	probably benign	Het
Vstm2a	T	A	11: 16,231,898 (GRCm39)	V231E	probably damaging	Het
Zfp445	A	T	9: 122,682,695 (GRCm39)	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,061,422 (GRCm39)	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,804,762 (GRCm39)	H464Y	probably benign	Het

Other mutations in Zfp108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Zfp108	APN	7	23,960,911 (GRCm39)	missense	possibly damaging	0.82
IGL01392:Zfp108	APN	7	23,957,872 (GRCm39)	splice site	probably benign
R0123:Zfp108	UTSW	7	23,959,892 (GRCm39)	missense	probably benign	0.00
R0126:Zfp108	UTSW	7	23,960,149 (GRCm39)	missense	probably benign	0.01
R0134:Zfp108	UTSW	7	23,959,892 (GRCm39)	missense	probably benign	0.00
R0243:Zfp108	UTSW	7	23,961,208 (GRCm39)	missense	possibly damaging	0.81
R1227:Zfp108	UTSW	7	23,959,885 (GRCm39)	missense	probably benign	0.00
R1464:Zfp108	UTSW	7	23,959,973 (GRCm39)	missense	probably benign	0.00
R1464:Zfp108	UTSW	7	23,959,973 (GRCm39)	missense	probably benign	0.00
R1731:Zfp108	UTSW	7	23,957,964 (GRCm39)	missense	possibly damaging	0.75
R1739:Zfp108	UTSW	7	23,960,735 (GRCm39)	missense	probably damaging	1.00
R1751:Zfp108	UTSW	7	23,961,321 (GRCm39)	missense	probably damaging	1.00
R3713:Zfp108	UTSW	7	23,961,270 (GRCm39)	nonsense	probably null
R3839:Zfp108	UTSW	7	23,959,981 (GRCm39)	missense	probably benign	0.01
R3919:Zfp108	UTSW	7	23,960,257 (GRCm39)	missense	probably damaging	0.99
R3922:Zfp108	UTSW	7	23,960,773 (GRCm39)	missense	probably damaging	1.00
R4707:Zfp108	UTSW	7	23,959,837 (GRCm39)	missense	probably benign	0.08
R4912:Zfp108	UTSW	7	23,960,739 (GRCm39)	missense	probably damaging	1.00
R4965:Zfp108	UTSW	7	23,959,573 (GRCm39)	missense	probably benign
R4989:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5014:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5163:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5183:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5184:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5185:Zfp108	UTSW	7	23,960,163 (GRCm39)	missense	probably benign	0.00
R5453:Zfp108	UTSW	7	23,960,689 (GRCm39)	missense	probably damaging	1.00
R5600:Zfp108	UTSW	7	23,960,011 (GRCm39)	missense	probably benign	0.00
R6494:Zfp108	UTSW	7	23,960,782 (GRCm39)	missense	probably damaging	1.00
R6601:Zfp108	UTSW	7	23,960,819 (GRCm39)	missense	probably damaging	0.98
R6735:Zfp108	UTSW	7	23,961,197 (GRCm39)	missense	probably damaging	1.00
R7646:Zfp108	UTSW	7	23,960,840 (GRCm39)	missense	probably damaging	1.00
R7732:Zfp108	UTSW	7	23,960,952 (GRCm39)	missense	probably benign	0.00
R7873:Zfp108	UTSW	7	23,960,758 (GRCm39)	missense	probably benign	0.19
R8100:Zfp108	UTSW	7	23,960,602 (GRCm39)	missense	probably damaging	1.00
R9169:Zfp108	UTSW	7	23,960,923 (GRCm39)	missense	probably damaging	1.00
R9702:Zfp108	UTSW	7	23,960,195 (GRCm39)	missense	probably benign	0.02
RF019:Zfp108	UTSW	7	23,961,032 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAAACACTGTCCTCAGACTTGGG -3'
(R):5'- GTGACTGAAACCTTTGCCACAC -3'

Sequencing Primer
(F):5'- TCCTCAGACTTGGGTGAAAAATAAG -3'
(R):5'- GAAACCTTTGCCACACTCGTG -3'

Posted On

2020-07-28